Canonical Allele Identifier: CA2621024751

Gene: PTPN11

Linked Data

• gnomAD v4: 12-112478130-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112478136dup , CM000674.2:g.112478136dup	GRCh38
NC_000012.11:g.112915940dup , CM000674.1:g.112915940dup	GRCh37
NC_000012.10:g.111400323dup	NCBI36
NG_007459.1:g.64405dup , LRG_614:g.64405dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1092+121dup	ENSP00000491593.2:n.1092+121dup
ENST00000685487.1:c.1092+121dup	ENSP00000508503.1:n.1092+121dup
ENST00000687906.1:c.978+121dup	ENSP00000509536.1:n.978+121dup
ENST00000688597.1:c.1092+121dup	ENSP00000510628.1:n.1092+121dup
ENST00000690210.1:c.1092+121dup	ENSP00000509272.1:n.1092+121dup
ENST00000692624.1:c.1092+121dup	ENSP00000508953.1:n.1092+121dup
ENST00000351677.7:c.1092+121dup MANE Select	ENSP00000340944.3:n.1092+121dup
ENST00000351677.6:c.1092+121dup	ENSP00000340944.2:n.1092+121dup
ENST00000392597.5:c.1092+121dup	ENSP00000376376.1:n.1092+121dup
ENST00000635625.1:c.1092+121dup	ENSP00000489597.1:n.1092+121dup
ENST00000635652.1:c.84+121dup	ENSP00000489541.1:n.84+121dup
NM_002834.3:c.1092+121dup , LRG_614t1:c.1092+121dup	NP_002825.3:n.1092+121dup
NM_080601.1:c.1092+121dup	NP_542168.1:n.1092+121dup
XM_006719526.1:c.1092+121dup	XP_006719589.1:n.1092+121dup
XM_006719527.1:c.978+121dup	XP_006719590.1:n.978+121dup
XM_011538613.1:c.1089+121dup	XP_011536915.1:n.1089+121dup
NM_001330437.1:c.1092+121dup	NP_001317366.1:n.1092+121dup
NM_002834.4:c.1092+121dup	NP_002825.3:n.1092+121dup
NM_080601.2:c.1092+121dup	NP_542168.1:n.1092+121dup
XM_011538613.2:c.1089+121dup	XP_011536915.1:n.1089+121dup
XM_017019722.1:c.1089+121dup	XP_016875211.1:n.1089+121dup
NM_001330437.2:c.1092+121dup	NP_001317366.1:n.1092+121dup
NM_001374625.1:c.1089+121dup	NP_001361554.1:n.1089+121dup
NM_002834.5:c.1092+121dup MANE Select	NP_002825.3:n.1092+121dup
NM_080601.3:c.1092+121dup	NP_542168.1:n.1092+121dup